RGD:155645555 Rat Genome Database

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Variant: RGD:155645555 -  Homo sapiens

RGD ID: 155645555
ClinVar ID: CV1710907
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 6,718,427
GRCh38 19 6,718,416
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.6718416G>A
NC_000019.9:g.6718427G>A
NM_000064.3:c.268-4C>T
NM_000064.4:c.268-4C>T
More... 		03/15/2022 intron variant uncertain significance Atypical HUS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C3
Accession:NM_000064
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002294688 CLINVAR
MedGen C2931788 CLINVAR
NCBI Gene C3 CLINVAR
OMIM 120700 CLINVAR